Canonical Allele Identifier: CA2760125724

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003334A>C , CM000666.2:g.1003334A>C	GRCh38
NC_000004.11:g.997122A>C , CM000666.1:g.997122A>C	GRCh37
NC_000004.10:g.987122A>C	NCBI36
NG_008103.1:g.21338A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1525-11A>C	ENSP00000247933.4:n.1525-11A>C
ENST00000514224.2:c.1525-11A>C MANE Select	ENSP00000425081.2:n.1525-11A>C
ENST00000652070.1:n.1581-11A>C
ENST00000247933.8:c.1525-11A>C	ENSP00000247933.4:n.1525-11A>C
ENST00000502829.1:n.503A>C
ENST00000514224.1:c.1129-11A>C	ENSP00000425081.1:n.1129-11A>C
ENST00000514698.5:n.1632-11A>C
NM_000203.4:c.1525-11A>C	NP_000194.2:n.1525-11A>C
NR_110313.1:n.1613-11A>C
XM_006713882.2:c.1129-11A>C	XP_006713945.1:n.1129-11A>C
XM_011513459.1:c.1591-11A>C	XP_011511761.1:n.1591-11A>C
XM_011513460.1:c.1384-11A>C	XP_011511762.1:n.1384-11A>C
XM_011513461.1:c.1318-11A>C	XP_011511763.1:n.1318-11A>C
XM_011513462.1:c.1237-11A>C	XP_011511764.1:n.1237-11A>C
XM_011513463.1:c.1237-11A>C	XP_011511765.1:n.1237-11A>C
XR_924947.1:n.1770A>C
NM_000203.5:c.1525-11A>C MANE Select	NP_000194.2:n.1525-11A>C
NM_001363576.1:c.1129-11A>C	NP_001350505.1:n.1129-11A>C
XM_011513461.2:c.1318-11A>C	XP_011511763.1:n.1318-11A>C
XM_017008163.1:c.565-11A>C	XP_016863652.1:n.565-11A>C